A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959014



Internal ID18870821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113437295..113440395hg38UCSC Ensembl
Outerchr12:113875100..113878200hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118505
Supporting Variants
SamplesKWS1
Known GenesSDSL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959014
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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